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Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Basgalupp SP, et al. Among authors: siebert m. Am J Med Genet A. 2021 Aug;185(8):2471-2476. doi: 10.1002/ajmg.a.62252. Epub 2021 May 24. Am J Med Genet A. 2021. PMID: 34031990 Review.
Cytokines levels in late-diagnosed Classical Homocystinuria patients.
Poloni S, Siebert M, Donis KC, Weber Hoss GR, Blom HJ, Schwartz IVD. Poloni S, et al. Among authors: siebert m. Mol Genet Metab Rep. 2018 Sep 28;17:43-44. doi: 10.1016/j.ymgmr.2018.09.003. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30294544 Free PMC article. No abstract available.
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
d'Avila Paskulin L, Starosta RT, Zizemer VS, Basgalupp S, Bertholdo D, Vairo FPE, Siebert M, Michelin-Tirelli K, Schwartz IVD. d'Avila Paskulin L, et al. Among authors: siebert m. Mol Genet Metab Rep. 2019 Nov 22;21:100544. doi: 10.1016/j.ymgmr.2019.100544. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31799121 Free PMC article.
Assessment of cellular cobalamin metabolism in Gaucher disease.
Basgalupp SP, Siebert M, Ferreira C, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Basgalupp SP, et al. Among authors: siebert m. BMC Med Genet. 2020 Jan 13;21(1):12. doi: 10.1186/s12881-020-0947-z. BMC Med Genet. 2020. PMID: 31931749 Free PMC article.
Liver involvement in patients with Gaucher disease types I and III.
Starosta RT, Vairo FPE, Dornelles AD, Basgalupp SP, Siebert M, Pedroso MLA, Cerski CTS, Álvares-da-Silva MR, Schwartz IVD. Starosta RT, et al. Among authors: siebert m. Mol Genet Metab Rep. 2020 Jan 7;22:100564. doi: 10.1016/j.ymgmr.2019.100564. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 32099816 Free PMC article.
300 results